ClinVar Miner

Submissions for variant NM_173689.6(CRB2):c.2400C>G (p.Asn800Lys) (rs765676223)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000657852 SCV000779609 likely pathogenic not provided 2018-05-14 criteria provided, single submitter clinical testing The N800K variant in the CRB2 gene has been reported previously with another CRB2 variant in several individuals with features of CRB2-related disorder (Slavotinek et al., 2015; Lamont et al., 2016; Jaron et al., 2016). The N800K variant is observed in 50/9792 (0.5%) alleles from individuals of Ashkenazi Jewish background in large population cohorts (Lek et al., 2016). In addition, the N800K variant has been identified in the homozygous state in one presumably healthy individual tested at GeneDx. The N800K variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. In-silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect. We interpret N800K as a likely pathogenic variant.
Gharavi Laboratory,Columbia University RCV000657852 SCV000809309 pathogenic not provided 2018-09-16 no assertion criteria provided research
OMIM RCV000157660 SCV000207611 pathogenic Ventriculomegaly with cystic kidney disease 2015-01-08 no assertion criteria provided literature only

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